Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).

Autor: Seaver LH; Division of Medical Genetics and Genomics, Corewell Health Helen Devos Children's Hospital, Grand Rapids, MI; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI., Chan P; LabCorp, Phoenix, AZ., Fleisher LD; American College of Medical Genetics and Genomics, Bethesda, MD., Huang SJ; Division of Medical Genetics, Marshfield Clinic Health System, Marshfield, WI., Klugman SD; Division of Reproductive and Medical Genetics, Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY., Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford University, Stanford, CA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct; Vol. 26 (10), pp. 101229. Date of Electronic Publication: 2024 Sep 05.

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Autor: Verscaj CP; Stanford University, Palo Alto, California, USA., Velez-Bartolomei F; University of Puerto Rico, School of Medicine, San Juan, PR, USA., Bodle E; Stanford University, Palo Alto, California, USA., Chan K; Stanford University, Palo Alto, California, USA., Lyons MJ; Greenwood Genetic Center, Miami, Florida, USA., Thorson W; University of Miami Miller School of Medicine, Miami, Florida, USA., Tan WH; Boston Children's Hospital, Boston, Massachusetts, USA., Rodig N; Boston Children's Hospital, Boston, Massachusetts, USA., Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA., Peron A; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy., Quintero-Rivera F; Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine School of Medicine, University of California Irvine, Irvine, California, USA., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Thomas MA; Departments of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA., Adam MP; University of Washington, Seattle, Washington, USA., Bird LM; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA., Jones MC; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA., Matalon DR; Stanford University, Palo Alto, California, USA.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Feb; Vol. 44 (2), pp. 237-246. Date of Electronic Publication: 2023 Aug 26.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Autor: Matalon DR; Division of Medical Genetics, Stanford University, Stanford, California, USA., Bhoj EJ; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., McDougall C; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Schindewolf E; Center for Fetal Diagnosis and Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Khalek N; Center for Fetal Diagnosis and Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wilkens A; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., McManus M; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA., Zackai EH; Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 977-982. Date of Electronic Publication: 2023 Jan 06.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

Autor: Coenen-van der Spek J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London Health Sciences Foundation, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London Health Sciences Foundation, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London Health Sciences Foundation, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London Health Sciences Foundation, London, Ontario, Canada., Tedder ML; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Fletcher RS; Greenwood Genetic Center, Greenwood, SC., Moore HW; Greenwood Genetic Center, Greenwood, SC., Childers A; Greenwood Genetic Center, Greenwood, SC., Farrelly ER; Lucile Packard Children's Hospital Stanford, Palo Alto, CA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA., Champaigne NL; Greenwood Genetic Center, Greenwood, SC., Lyons MJ; Greenwood Genetic Center, Greenwood, SC., Everman DB; Greenwood Genetic Center, Greenwood, SC., Rogers RC; Greenwood Genetic Center, Greenwood, SC., Skinner SA; Greenwood Genetic Center, Greenwood, SC., Renck A; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA., Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA., Dills SK; Clinical Genetics, Levine Children's Specialty Center, Atrium Health, Charlotte, NC., Monteleone B; Clinical Genetics, Levine Children's Specialty Center, Atrium Health, Charlotte, NC; Division of Medical Genetics, Department of Pediatrics, NYU Langone Health, NYU Long Island, New York, NY., Demirdas S; Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Donker Kaat L; Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, The Netherlands., Kolk SM; Department of Molecular Neurobiology, Donders Center for Neuroscience, Faculty of Science, Radboud University, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London Health Sciences Foundation, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. Electronic address: Tjitske.Kleefstra@radboudumc.nl., Butler KM; Greenwood Genetic Center, Greenwood, SC. Electronic address: kbutler@ggc.org.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 63-75. Date of Electronic Publication: 2022 Nov 18.

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

Autor: Morales JA; Department of Pediatrics, Medical Genetics Division, Stanford University, Stanford, California, USA., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Matalon DR; Department of Pediatrics, Medical Genetics Division, Stanford University, Stanford, California, USA., Gomez-Ospina N; Department of Pediatrics, Medical Genetics Division, Stanford University, Stanford, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 May; Vol. 188 (5), pp. 1396-1406. Date of Electronic Publication: 2022 Jan 12.